ArticleEuropean journal of human genetics : EJHG2015
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.European journal of human genetics : EJHG · 2016Pooled it
- Prenatal Education of Parents About Newborn Screening and Residual Dried Blood Spots: A Randomized Clinical Trial.JAMA pediatrics · 2016Trial
- Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.Journal of human immunity · 2026Article
- A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.International journal of neonatal screening · 2026Article
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.European journal of human genetics : EJHG · 2026Review
- Young adult perspectives regarding receiving medically actionable gene testing results for newborns: A qualitative investigation.Journal of community genetics · 2026Article
- An evaluation of U.S. federal investments in newborn screening: successes, gaps, and future directions.Frontiers in public health · 2026Article
- Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found.European journal of human genetics : EJHG · 2025Article
- Storing paediatric genomic data for sequential interrogation across the lifespan.Journal of medical ethics · 2025Article
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study.European journal of human genetics : EJHG · 2024Article
- Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.International journal of neonatal screening · 2024Article
- Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.Frontiers in public health · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Policy-making and implementation for newborn bloodspot screening in Europe: a comparison between EURORDIS principles and UK practice.The Lancet regional health. Europe · 2023Review
- Parental Preferences for Expanded Newborn Screening: What Are the Limits?Children (Basel, Switzerland) · 2023Article
- Article
- Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?European journal of human genetics : EJHG · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.